Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

Nature Genetics

Volumn 49, Issue 4, 2017, Pages 504-510

  Kosmicki, Jack A ^a,b,c,d   Samocha, Kaitlin E ^a,b,c,d   Howrigan, Daniel P ^a,b   Sanders, Stephan J ^e   Slowikowski, Kamil ^b,c,f,g   Lek, Monkol ^a,b   Karczewski, Konrad J ^a,b   Cutler, David J ^h   Devlin, Bernie ⁱ   Roeder, Kathryn ^j   Buxbaum, Joseph D ^k   Neale, Benjamin M ^a,b   Macarthur, Daniel G ^a,b   Wall, Dennis P ^l   Robinson, Elise B ^a,b   Daly, Mark J ^a,b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^c HARVARD UNIVERSITY   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f BRIGHAM AND WOMEN S HOSPITAL   (United States)

^g LABORATORY FOR MOLECULAR MEDICINE   (United States)

^h EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^j CARNEGIE MELLON UNIVERSITY   (United States)

^k MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^l STANFORD UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN TRUNCATING VARIANT; PROTEIN VARIANT; SODIUM CHANNEL NAV1.2; UNCLASSIFIED DRUG;

ADNP GENE; ADULT; ANK2 GENE; ARID1B GENE; ARTICLE; ASH1L GENE; AUTISM; CHD2 GENE; CHD8 GENE; COHORT ANALYSIS; CONTROLLED STUDY; CPG ISLAND; DEVELOPMENTAL DISORDER; DSCAM GENE; DYRK1A GENE; EXOME; FEMALE; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; INHERITANCE; INTELLECTUAL IMPAIRMENT; KDM5B GENE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MENTAL DISEASE; MUTATION RATE; PENETRANCE; PHENOTYPE; POGZ GENE; POPULATION BASED CASE CONTROL STUDY; PRIORITY JOURNAL; SYNGAP1 GENE; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS;

AUTISM SPECTRUM DISORDER; EXOME; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; INTELLECTUAL DISABILITY; NEURODEVELOPMENTAL DISORDERS; PHENOTYPE;

EID: 85012277777     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3789     Document Type: Article

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